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Rare presentation of Fabry disease as ‘burnt-out’ hypertrophic cardiomyopathy
  1. Sam Williams,
  2. Ahmed El-Medany,
  3. Angus Nightingale and
  4. Yasmin Ismail
  1. Division of Cardiology, Bristol Heart Institute, Bristol, UK
  1. Correspondence to Dr Ahmed El-Medany; amedany{at}


We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy and then ‘burnt-out phase’ of HCM but subsequently the underlying diagnosis was Fabry disease. Fabry disease is an uncommon lysosomal-storage disease due to reduced or absent activity of the alpha-galactosidase A enzyme. Cardiac involvement most frequently comprises left ventricular hypertrophy. Early treatment of the underlying condition with enzyme replacement therapy may prevent the progression to end-stage heart failure. Fabry disease should be considered in all patients presenting with a clinical phenotype of HCM and a historical diagnosis should be re-evaluated in light of new diagnostic tools. Untreated Fabry can progress to a ‘burnt out’ phase, whereby initial hypertrophy undergoes eccentric remodelling to a dilated, severely impaired left ventricle.

  • heart failure
  • cardiovascular medicine
  • cardiovascular system

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  • Contributors SW and AE-M drafted and revised the manuscript and contributed to the conception and design of the case report. AN and YI contributed to the conception of the study and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.